Incidental Mutation 'R7764:Frmd4b'
| ID |
598119 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frmd4b
|
| Ensembl Gene |
ENSMUSG00000030064 |
| Gene Name |
FERM domain containing 4B |
| Synonyms |
GRSP1, 6030440G05Rik |
| MMRRC Submission |
045820-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7764 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
97263828-97594502 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97272891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 834
(Y834H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032146
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032146]
[ENSMUST00000113355]
[ENSMUST00000113359]
|
| AlphaFold |
Q920B0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032146
AA Change: Y834H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032146
Gene: ENSMUSG00000030064
AA Change: Y834H
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
55 |
260 |
7.4e-35 |
SMART |
|
FERM_C
|
264 |
365 |
8.7e-26 |
SMART |
|
Pfam:DUF3338
|
395 |
529 |
4.5e-55 |
PFAM |
|
coiled coil region
|
534 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
592 |
N/A |
INTRINSIC |
|
low complexity region
|
731 |
742 |
N/A |
INTRINSIC |
|
low complexity region
|
941 |
958 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113355
AA Change: Y780H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108982
Gene: ENSMUSG00000030064
AA Change: Y780H
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
1 |
206 |
4.5e-37 |
SMART |
|
FERM_C
|
210 |
311 |
4.1e-30 |
SMART |
|
Pfam:DUF3338
|
340 |
476 |
6.9e-58 |
PFAM |
|
coiled coil region
|
480 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
677 |
688 |
N/A |
INTRINSIC |
|
low complexity region
|
887 |
904 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113359
AA Change: Y788H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108986
Gene: ENSMUSG00000030064
AA Change: Y788H
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
9 |
214 |
7.4e-35 |
SMART |
|
FERM_C
|
218 |
319 |
8.7e-26 |
SMART |
|
Pfam:DUF3338
|
348 |
484 |
8e-61 |
PFAM |
|
coiled coil region
|
488 |
512 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
546 |
N/A |
INTRINSIC |
|
low complexity region
|
685 |
696 |
N/A |
INTRINSIC |
|
low complexity region
|
895 |
912 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GRP1-binding protein which contains a FERM protein interaction domain as well as two coiled coil domains. This protein may play a role as a scaffolding protein. [provided by RefSeq, Mar 2014]
|
| Allele List at MGI |
All alleles(24) : Targeted(2) Gene trapped(22)
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
T |
G |
16: 20,368,040 (GRCm39) |
L93V |
probably benign |
Het |
| Adss2 |
A |
C |
1: 177,591,827 (GRCm39) |
M452R |
probably damaging |
Het |
| Aldh3b1 |
T |
A |
19: 3,971,563 (GRCm39) |
K102* |
probably null |
Het |
| Ccdc162 |
A |
T |
10: 41,566,109 (GRCm39) |
V78D |
possibly damaging |
Het |
| Ccr3 |
T |
C |
9: 123,829,451 (GRCm39) |
V262A |
probably benign |
Het |
| Cdk13 |
A |
T |
13: 17,895,890 (GRCm39) |
|
probably null |
Het |
| Cdyl |
A |
T |
13: 36,000,126 (GRCm39) |
T136S |
possibly damaging |
Het |
| Chd2 |
T |
C |
7: 73,121,567 (GRCm39) |
D1015G |
probably null |
Het |
| Cntn2 |
C |
A |
1: 132,450,101 (GRCm39) |
A598S |
probably benign |
Het |
| Cxxc4 |
G |
T |
3: 133,945,856 (GRCm39) |
G146C |
unknown |
Het |
| Dnah2 |
G |
A |
11: 69,348,984 (GRCm39) |
T2501I |
probably benign |
Het |
| Dock8 |
T |
A |
19: 25,074,899 (GRCm39) |
I471N |
probably benign |
Het |
| Eaf2 |
A |
G |
16: 36,645,045 (GRCm39) |
V59A |
probably damaging |
Het |
| Egflam |
T |
A |
15: 7,347,736 (GRCm39) |
I65F |
probably damaging |
Het |
| Exoc3l |
A |
G |
8: 106,017,333 (GRCm39) |
V577A |
possibly damaging |
Het |
| Folh1 |
A |
T |
7: 86,412,126 (GRCm39) |
M215K |
probably benign |
Het |
| Fosb |
T |
C |
7: 19,038,971 (GRCm39) |
D271G |
possibly damaging |
Het |
| Fsip2 |
T |
C |
2: 82,811,252 (GRCm39) |
S2524P |
possibly damaging |
Het |
| Gbp3 |
A |
G |
3: 142,271,024 (GRCm39) |
T143A |
probably benign |
Het |
| Grk2 |
A |
T |
19: 4,337,391 (GRCm39) |
L632Q |
probably damaging |
Het |
| Hars1 |
A |
T |
18: 36,903,237 (GRCm39) |
D364E |
probably damaging |
Het |
| Hsd17b4 |
G |
T |
18: 50,279,482 (GRCm39) |
G154* |
probably null |
Het |
| Kif5c |
T |
C |
2: 49,617,973 (GRCm39) |
|
probably null |
Het |
| Kif5c |
T |
C |
2: 49,639,339 (GRCm39) |
L800P |
probably damaging |
Het |
| Krt19 |
T |
C |
11: 100,032,218 (GRCm39) |
N282S |
probably benign |
Het |
| Med23 |
T |
G |
10: 24,785,818 (GRCm39) |
|
probably null |
Het |
| Meltf |
A |
G |
16: 31,699,085 (GRCm39) |
Q65R |
probably benign |
Het |
| Mms22l |
T |
C |
4: 24,598,842 (GRCm39) |
S1106P |
probably damaging |
Het |
| Mprip |
A |
G |
11: 59,655,242 (GRCm39) |
T733A |
probably damaging |
Het |
| Mul1 |
G |
A |
4: 138,162,080 (GRCm39) |
G4S |
possibly damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Mylk |
G |
T |
16: 34,742,553 (GRCm39) |
V1022L |
probably benign |
Het |
| Ncald |
G |
T |
15: 37,397,454 (GRCm39) |
N75K |
probably damaging |
Het |
| Nfib |
A |
G |
4: 82,238,731 (GRCm39) |
S492P |
possibly damaging |
Het |
| Notch2 |
A |
T |
3: 98,050,304 (GRCm39) |
I1860F |
probably damaging |
Het |
| Or9i14 |
A |
G |
19: 13,792,111 (GRCm39) |
I281T |
probably benign |
Het |
| Oxr1 |
T |
C |
15: 41,683,263 (GRCm39) |
S298P |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,190,082 (GRCm39) |
D2818G |
probably benign |
Het |
| Pmpcb |
G |
A |
5: 21,948,450 (GRCm39) |
A244T |
probably damaging |
Het |
| Poln |
A |
G |
5: 34,274,151 (GRCm39) |
|
probably null |
Het |
| Polr1a |
G |
A |
6: 71,930,054 (GRCm39) |
V914M |
probably damaging |
Het |
| Rab15 |
A |
C |
12: 76,851,215 (GRCm39) |
|
probably null |
Het |
| Rasgrf1 |
G |
T |
9: 89,876,747 (GRCm39) |
S704I |
possibly damaging |
Het |
| Rsf1 |
GGCGGCGG |
GGCGGCGGGCGCGGCGG |
7: 97,229,134 (GRCm39) |
|
probably benign |
Het |
| Sart1 |
C |
A |
19: 5,438,613 (GRCm39) |
G15W |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,919,242 (GRCm39) |
*1666W |
probably null |
Het |
| Setd1b |
G |
C |
5: 123,284,622 (GRCm39) |
R184P |
unknown |
Het |
| Sfxn2 |
A |
T |
19: 46,574,179 (GRCm39) |
N123I |
probably damaging |
Het |
| Slc22a3 |
A |
G |
17: 12,677,383 (GRCm39) |
W262R |
probably damaging |
Het |
| Slc38a10 |
A |
G |
11: 119,995,905 (GRCm39) |
L1064P |
probably damaging |
Het |
| Sorcs2 |
A |
T |
5: 36,181,416 (GRCm39) |
S1077R |
possibly damaging |
Het |
| Them7 |
G |
T |
2: 105,128,171 (GRCm39) |
E51* |
probably null |
Het |
| Ubc |
A |
G |
5: 125,465,133 (GRCm39) |
S65P |
possibly damaging |
Het |
| Ubqln3 |
A |
T |
7: 103,790,443 (GRCm39) |
M549K |
possibly damaging |
Het |
| Vmn1r222 |
A |
G |
13: 23,416,529 (GRCm39) |
L228P |
probably damaging |
Het |
| Vmn2r60 |
A |
G |
7: 41,844,535 (GRCm39) |
T633A |
probably damaging |
Het |
| Zfp382 |
T |
C |
7: 29,832,700 (GRCm39) |
V117A |
probably benign |
Het |
| Zic1 |
C |
T |
9: 91,247,745 (GRCm39) |
|
probably benign |
Het |
| Zmym4 |
A |
T |
4: 126,819,409 (GRCm39) |
F165I |
probably benign |
Het |
|
| Other mutations in Frmd4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00849:Frmd4b
|
APN |
6 |
97,285,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01478:Frmd4b
|
APN |
6 |
97,305,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01760:Frmd4b
|
APN |
6 |
97,285,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01777:Frmd4b
|
APN |
6 |
97,272,905 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01960:Frmd4b
|
APN |
6 |
97,272,741 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02408:Frmd4b
|
APN |
6 |
97,272,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02429:Frmd4b
|
APN |
6 |
97,302,390 (GRCm39) |
splice site |
probably benign |
|
|
IGL02525:Frmd4b
|
APN |
6 |
97,389,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02618:Frmd4b
|
APN |
6 |
97,285,066 (GRCm39) |
nonsense |
probably null |
|
|
IGL03051:Frmd4b
|
APN |
6 |
97,272,943 (GRCm39) |
nonsense |
probably null |
|
|
IGL03120:Frmd4b
|
APN |
6 |
97,373,206 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03218:Frmd4b
|
APN |
6 |
97,285,075 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03260:Frmd4b
|
APN |
6 |
97,373,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02984:Frmd4b
|
UTSW |
6 |
97,273,221 (GRCm39) |
missense |
probably damaging |
0.96 |
|
P0031:Frmd4b
|
UTSW |
6 |
97,330,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0055:Frmd4b
|
UTSW |
6 |
97,300,610 (GRCm39) |
splice site |
probably benign |
|
|
R0055:Frmd4b
|
UTSW |
6 |
97,300,610 (GRCm39) |
splice site |
probably benign |
|
|
R0058:Frmd4b
|
UTSW |
6 |
97,400,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0255:Frmd4b
|
UTSW |
6 |
97,285,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0437:Frmd4b
|
UTSW |
6 |
97,400,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0594:Frmd4b
|
UTSW |
6 |
97,302,387 (GRCm39) |
splice site |
probably benign |
|
|
R1525:Frmd4b
|
UTSW |
6 |
97,273,347 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1640:Frmd4b
|
UTSW |
6 |
97,285,634 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1768:Frmd4b
|
UTSW |
6 |
97,283,725 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1923:Frmd4b
|
UTSW |
6 |
97,265,415 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2056:Frmd4b
|
UTSW |
6 |
97,389,448 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2192:Frmd4b
|
UTSW |
6 |
97,464,577 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3809:Frmd4b
|
UTSW |
6 |
97,300,690 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R3831:Frmd4b
|
UTSW |
6 |
97,389,486 (GRCm39) |
nonsense |
probably null |
|
|
R4466:Frmd4b
|
UTSW |
6 |
97,300,614 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4536:Frmd4b
|
UTSW |
6 |
97,287,693 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4652:Frmd4b
|
UTSW |
6 |
97,272,716 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4679:Frmd4b
|
UTSW |
6 |
97,272,627 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4735:Frmd4b
|
UTSW |
6 |
97,436,220 (GRCm39) |
start gained |
probably benign |
|
|
R4793:Frmd4b
|
UTSW |
6 |
97,272,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4940:Frmd4b
|
UTSW |
6 |
97,275,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4948:Frmd4b
|
UTSW |
6 |
97,283,691 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5092:Frmd4b
|
UTSW |
6 |
97,272,941 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5119:Frmd4b
|
UTSW |
6 |
97,277,275 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5289:Frmd4b
|
UTSW |
6 |
97,279,309 (GRCm39) |
splice site |
probably null |
|
|
R5610:Frmd4b
|
UTSW |
6 |
97,283,752 (GRCm39) |
missense |
probably benign |
|
|
R5690:Frmd4b
|
UTSW |
6 |
97,330,164 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6248:Frmd4b
|
UTSW |
6 |
97,436,173 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6437:Frmd4b
|
UTSW |
6 |
97,273,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6459:Frmd4b
|
UTSW |
6 |
97,464,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6825:Frmd4b
|
UTSW |
6 |
97,302,437 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6964:Frmd4b
|
UTSW |
6 |
97,282,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7110:Frmd4b
|
UTSW |
6 |
97,273,192 (GRCm39) |
nonsense |
probably null |
|
|
R7154:Frmd4b
|
UTSW |
6 |
97,283,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8073:Frmd4b
|
UTSW |
6 |
97,283,674 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8382:Frmd4b
|
UTSW |
6 |
97,282,209 (GRCm39) |
missense |
probably benign |
|
|
R8746:Frmd4b
|
UTSW |
6 |
97,269,370 (GRCm39) |
missense |
probably benign |
|
|
R8856:Frmd4b
|
UTSW |
6 |
97,269,359 (GRCm39) |
nonsense |
probably null |
|
|
R8881:Frmd4b
|
UTSW |
6 |
97,272,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8885:Frmd4b
|
UTSW |
6 |
97,389,480 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8907:Frmd4b
|
UTSW |
6 |
97,273,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8975:Frmd4b
|
UTSW |
6 |
97,283,477 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9032:Frmd4b
|
UTSW |
6 |
97,269,334 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9085:Frmd4b
|
UTSW |
6 |
97,269,334 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9094:Frmd4b
|
UTSW |
6 |
97,398,559 (GRCm39) |
missense |
|
|
|
R9429:Frmd4b
|
UTSW |
6 |
97,279,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Frmd4b
|
UTSW |
6 |
97,282,326 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGATCCTTTTGTCCAGAAGCC -3'
(R):5'- AGGAAGCATGCCCAACCTAG -3'
Sequencing Primer
(F):5'- TCAGCAACTAAGGCCTTGTG -3'
(R):5'- CCTAGCACAAAAGGATCCTTTGAGG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation